Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DYSKERATOSIS CONGENITA	1775 C0265965 MONDO:0015780 MESH:D019871	CTC1	Causal	20301779 22532422 22556055	CTD Disgenet Orphanet
		DKC1	Causal	17785587 22299032 20301779	CTD ClinVar Disgenet Orphanet
		PARN	Causal	25893599	Disgenet GWAS catalog Orphanet
		POT1	Causal	—	Disgenet
		RTEL1	Causal	23453664	Disgenet GWAS catalog Orphanet
		TERT	Causal	16247010 17785587 18042801 20301779	CTD Disgenet GWAS catalog Orphanet
		TINF2	Causal	18252230 20301779	CTD Disgenet GWAS catalog Orphanet
		TYMS	Causal	35931051	Disgenet Orphanet
		ZCCHC8	Causal	—	Disgenet
		DCLRE1B	Unknown	—	Disgenet
		ENOSF1	Unknown	—	Disgenet
		GAR1	Unknown	22299032	CTD Disgenet
		NHP2	Unknown	20301779	Disgenet Orphanet
		NOP10	Unknown	20301779	Disgenet Orphanet
		NPM1	Unknown	31570891	CTD Disgenet GWAS catalog Orphanet
		PFAS	Unknown	—	Disgenet
		RMND5B	Unknown	—	Disgenet
		TGM1	Unknown	—	Disgenet
		TP53	Unknown	—	Disgenet
		USB1	Unknown	20817924 22160078	Disgenet GWAS catalog Orphanet
		WRAP53	Unknown	20301779	ClinGen Disgenet GenCC Orphanet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	C1851970 MESH:C565079	TERT	Unknown	—	CTD Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	C1851970 MESH:C565079	TINF2	Unknown	—	CTD Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1	C4551974 127550 MONDO:0007485	INPP4A	Causal	—	Disgenet
		TERT	Causal	—	ClinVar Disgenet HPO
		TINF2	Causal	—	ClinVar Disgenet HPO
		MECOM	Unknown	—	Disgenet
		RTEL1	Unknown	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2	613989 C3151443 MONDO:0013521 OMIM:613989	TERT	Causal	—	CTD ClinGen ClinVar Disgenet GenCC HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3	613990 C3151445 MONDO:0013522 OMIM:613990	TINF2	Causal	18252230 18669893	CTD ClinGen ClinVar Disgenet HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4	C3808802	RTEL1	Causal	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6	616553 C4225284 MONDO:0014690 OMIM:616553	ACD	Causal	20493811 25205116 25233904 27528712 30064976 33446513	CTD ClinVar Disgenet GWAS catalog HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	C3502105 MESH:C565611	DCLRE1B	Unknown	—	Disgenet
		NHP2	Unknown	—	CTD Disgenet
		NOP10	Unknown	—	CTD Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	224230 MONDO:0009136 C1857144	NHP2	Causal	—	ClinVar HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	224230 MONDO:0009136 C1857144	NOP10	Unknown	17507419 20008900	ClinVar Disgenet HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2	613987 C3151441 MONDO:0013519 OMIM:613987	NHP2	Causal	18523010 20008900	CTD ClinGen ClinVar Disgenet HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2	613987 C3151441 MONDO:0013519 OMIM:613987	RMND5B	Unknown	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3	613988 C3151442 MONDO:0013520 OMIM:613988	WRAP53	Causal	21205863 34599657 29514627 32303682	CTD ClinVar Disgenet GWAS catalog HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3	613988 C3151442 MONDO:0013520 OMIM:613988	TP53	Unknown	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4	C3151444	TERT	Unknown	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	615190 C3554656 MONDO:0014076 OMIM:615190	RTEL1	Causal	23329068 23453664 23591994 23959892	CTD ClinVar Disgenet GWAS catalog HPO
		ARFRP1	Unknown	—	Disgenet
		TERT	Unknown	—	Disgenet
		TNFRSF6B	Unknown	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	616353 C4225356 MONDO:0014600 OMIM:616353	PARN	Causal	26810774 26482878 25893599	CTD ClinVar Disgenet GWAS catalog HPO
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7	C4225283	ACD	Causal	—	Disgenet
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8	620133 C5774257 MONDO:0859319	DCLRE1B	Causal	—	ClinVar Disgenet GenCC HPO
DYSKERATOSIS CONGENITA, DIGENIC	620040 C5774217 MONDO:0031057	TYMS	Causal	—	ClinVar Disgenet HPO

Dyskeratosis congenita